Myriad Women’s Health pioneered expanded carrier screening to empower patients with advanced knowledge that can make a difference in health outcomes.
The Myriad Foresight Carrier Screen is systematically designed to maximize the detection of at-risk couples for a pregnancy affected by inherited conditions. Myriad Women’s Health offers seamless support and services to make it easy to integrate genetic screening into your practice.
This means more patients will benefit from valuable information that couples can use to make a difference in health outcomes for their children.
The true goal of carrier screening is to detect couples who are at risk of passing down serious conditions. That’s why we’ve designed the Foresight Carrier Screen to maximize detection rates for the diseases that matter the most.
Rigorous disease selection
Focusing on 175+ serious, clinically-actionable, and prevalent conditions ensures you are providing meaningful information to your patients.
Unmatched detection rates for the vast majority of genes on our panel (>99% across ethnicities) means you can trust both positive and negative results.
Practice workflow support with
Whether it’s automated results reporting and tracking, merged reports for couples, or on-demand genetic counseling, we support your practice with end-to-end workflow solutions.
Our experts evaluated >650 genes based on strict criteria in an effort to produce not simply more, but meaningful clinical information.
Flexible panel choices with Foresight Carrier Screen, including:
cystic fibrosis and spinal muscular atrophy
Universal carrier screening for cystic fibrosis and spinal muscular atrophy is recommended by ACMG and ACOG.3,4
30% more pregnancies affected with cystic fibrosis* or spinal muscular atrophy can be identified using Myriad Women’s Health’s testing methodology.5
*when compared to a traditional 23 mutation panel
86% of affected
86% of affected pregnancies detected by expanded carrier screening are missed when screening for cystic fibrosis and spinal muscular atrophy alone.5
76% of couples
76% of couples found by ECS to be at risk for severe or profound conditions pursued alternative reproductive actions such as prenatal diagnosis or IVF with preimplantation genetic diagnosis.6
80% have no
80% of children born with genetic disease have no family history of the condition.7
40% cannot correctly identify ethnicity
40% of Americans can’t correctly identify the ancestry of all four grandparents.8
Myriad Foresight Carrier Screen Spotlight:
To help educate healthcare providers on the clinical impact of expanded carrier screening, we are highlighting conditions on the Foresight Carrier Screen such as 21-hydroxylase-deficient congenital adrenal hyperplasia (21-OH CAH).
In 2017, the American College of Obstetrics and Gynecology (ACOG) recognized expanded carrier screening as an acceptable screening strategy.8 Offering ECS routinely, regardless of family history or self-reported ethnicity, can improve outcomes for all patients.
In fact, the total risk of serious disorders identified through ECS* is higher than the incidence of routinely screened for conditions.
*For persons receiving Foresight Universal (176 condition) screening. Modeled US population, excluding those with family history.
We provide resources to help you educate your patients about Myriad products.
We offer a comprehensive program to make genetic products accessible for more of your patients.
We deliver screening and testing results effectively and thoroughly so you can focus on care plans.
We provide consults from genetic counselors tailored to help your patient understand their results.
The Myriad Foresight Carrier Screen identifies couples who are at elevated risk of passing inherited conditions to their children. Strict disease inclusion criteria are used to select conditions that are serious, clinically-actionable, and prevalent. These conditions have various outcomes:
Improves with early intervention
There is standard, recommended treatment that is reasonably accessible to most affected individuals. e.g. Phenylalanine hydroxylase deficiency (PKU), Wilson disease, Galactosemia, 21-hydroxylase-deficient congenital adrenal hyperplasia (21-OH CAH)
Leads to shortened life expectancy
Decrease in average lifespan for >60% of affected individuals. e.g. cystic fibrosis, Tay-Sachs disease, spinal muscular atrophy
Causes intellectual disability
A significant risk of intellectual disability, either with or without standard treatment. e.g. fragile X syndrome, Smith-Lemli-Opitz syndrome, metachromatic leukodystrophy
Has limited or no treatment options
Diseases are not currently curable and effective treatment options are lacking. e.g. Krabbe disease, Bloom syndrome, Pompe disease
Who to screen
Men and women planning to start a family
When to screen
Before or during pregnancy
4 mL blood, or saliva sample
Results in 2 weeks on average
Full-exon sequencing with panel-wide deletion calling
Provides a significant advantage over targeted sequencing in identifying carriers.
For prevalent, technically-challenging, difficult-to-sequence genes like 21-hydroxylase-deficient congenital adrenal hyperplasia (21-OH CAH). Learn more about 21-OH CAH at cah.counsyl.com.
Panel-wide deletion calling
With select duplication calling for certain prevalent conditions to further boost sensitivity.
Combines automation with manual investigation to classify variants.
- Beauchamp KA, Muzzey D, Wong KK, et al. Systematic design and comparison of expanded carrier screening panels. Genetics in Medicine 2017; doi:10.1038/gim.2017.69.
- Haque IS, Lazarin GA, Kang HP, Evans EA, Goldberg JD, Wapner RJ. Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. JAMA. 2016; 316(7):734-742.
- Prior, Thomas W. 2008. “Carrier Screening for Spinal Muscular Atrophy.” Genetics in Medicine: Official Journal of the American College of Medical Genetics 10 (November). The American College of Medical Genetics: 840
- Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine.” 2017. Obstetrics and Gynecology 129 (3): 595–96.
- Hogan et al. Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification. Clinical Chemistry 2018; doi:10.1373/clinchem.2018.286823
- Ghiossi, C.E., Goldberg, J.D., Haque, I.S. et al. J Genet Counsel (2017). https://doi.org/10.1007/s10897-017-0160-1.
- Blythe SA, et al. Clin Biochem. 1984;17(5):277-283.
- Condit, et al. 2003. “Attitudinal Barriers to Delivery of Race-Targeted Pharmacogenomics among Informed Lay Persons.” Genetics in Medicine: (5): 385–92.
- de Graaf G, Buckley F, Skotko BG. Estimates of live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet 2015; 167(4):756-767.
- Cragan JD, Roberts HE, Edmonds LD, et al. Surveillance for ancephaly and spina bifida and the impact of prenatal diagnosis–United States, 1985-1994. MMWR CDC Surveill Summ 1995 Aug 25; 44(4):1-13.
- Cystic Fibrosis Foundation Patient registry 2012 annual data report. Bethesda, Maryland. ©2013 Cystic Fibrosis Foundation